CDKL5 UK Trustees

We are a small but committed team who dedicate our time to help support our families, raise funds and awareness of CDKL5 deficiency disorder.

WhatsApp Image 2020-07-07 at 17.55.20

Carol-Anne Partridge, Chair of CDKL5 UK

Carol-Anne Partridge, is mother to Amber who is living with CDKL5 deficiency and is current Secretary of the CDKL5 Alliance. Carol-Anne is co-founder of CDKL5 UK and former director of the International Foundation for CDKL5 Research. Aside from CDKL5 UK she represents the CDKL5 associations in Europe by being the Epilepsy Patient Advocacy group (EPAG) representative for a European reference network called EpiCare – an initiative which is working to bring awareness and standardised care, among other things. for people living with rare and complex epilepsy in Europe.

Carol-Anne is married to Adrian and along with Amber, they also have two grown up children, Nathan and Cameron. She is a qualified children’s social worker and works full time in South West England. Carol-Anne is passionate about supporting families, raising awareness and challenging assumptions. Following her passion, Carol-Anne has just started a Masters degree in Global Health Policy with the University of Edinburgh (distance learning) in a hope this will further enhance the experience of families and patients living with CDKL5 deficiency.

Shelley Ashton

Shelley Ashton, Treasurer

I am Shelley, I joined CDKL5 UK a few years ago, as Treasurer. I am mum to Naomi who was born in 2004 and received her diagnosis in 2005. My husband Kevin and I have one other child, Caleb who is a wonderful older brother to Naomi.

Our CDKL5 journey was made easier in those early days when we started to connect with other families and subsequently with the advent of social media this has made connecting so much easier.

It is scary to have a child with significant additional needs, and I try not to think too far into the future but enjoy each day with Naomi.  I am passionate about advocating for her and making sure that she has the best life possible. She has taught us all so much and has a positive impact on anyone who meets her. She is in some respects a typical teenager with mood swings and a very determined nature.

Sarah S

Sarah Skillicorn, Trustee

Hi, my name is Sarah Skillicorn, I am a busy nurse and wife but most importantly I am mummy to Gracie who has CDKL5. Gracie was born in 2004 and made our family complete. She finally got her diagnosis of CDKL5 in 2009. For me those five long years in limbo were a difficult journey to undertake, drifting but getting nowhere fast. But if you’re here and reading this then I guess no explanation is needed.

My light bulb moment came when I found my CDKL5 family; bonded by our children we are stronger facing this journey together. CDKL5 is extremely rare and little is currently known about it. Along with my fellow parent pioneers we aim to change that for the better. As experts in our children we wish to educate and raise awareness. To be there for the next family facing this diagnosis, to offer advice, support and a good sturdy shoulder. I am privileged to be a part of the birth of this charity, to stand with others and know I am making a difference in the future for my daughter and so many more. I always believed that I would teach my daughter about the world but instead I find myself teaching the world about my daughter. And so welcome, I am sorry that you have had to seek us out but am very glad that you have found us.

Friendship isn’t about whom you have known the longest…..it’s about who came and never left your side.

79141386_256239719134172_6210185513723216926_n

Amanda Black, Trustee

I am Amanda and Mum to Olivia who was born in June 2008. Olivia was diagnosed with CDKL5 at the age of 11 months after many hours of research and discussions with various neurologists.  I am also a Hematology Senior Staff Nurse on an adult hematology hospital ward.

Olivia having her diagnosis of CDKL5 not only meant the invasive testing could stop but helped me to quickly understand Olivia and her needs but also what I needed to do for her. It gave me more clarity in the pathway that was to be Olivia. Having CDKL5 as a diagnosis enabled me to research what it meant for so many beautiful children and their family’s living with CDKL5.

I am extremely honoured and proud to be part of the CDKL5 UK charity and look forward to assisting the charity in the future challenges it will no doubt face.

79141386_256239719134172_6210185513723216926_n

Sarah Malins, Trustee

I am Mummy to Evie who is living with CDKL5. Evie is nearly 3 years old and received her diagnosis in June 2012. We have only been living with CDKL5 a short while, but we found our CDKL5 family so quickly it was amazing. As there is so little known about this rare genetic condition through pediatricians, I have the comfort in knowing I have my CDKL5 family I can go to for advice and support. I hope to help CDKL5 UK spread awareness, raise money and be there for support, as other families are for us.
‘A friendship is born at the moment one person says to another: what you too, I thought I was the only one….’

79141386_256239719134172_6210185513723216926_n

Martyn Newey, Trustee/Scientific Advisory Group (SAG) Co-ordinator

I am Ellie’s dad and I work as a spine surgeon in Leicester. Ellie was diagnosed with CDKL5 in 2010, and, like many other parents, I have developed my own website about Ellie and CDKL5. I have a basic understanding of genetics and cell biology from medical school which has obviously helped me to understand some of the science behind CDKL5. I constantly look for new information and try to present this in a form that I hope is readable and understandable to all who want to learn more about CDKL5.

79141386_256239719134172_6210185513723216926_n

Sapna & Nilesh Patel, Trustees

My wife Sapna and I are parents to Jia’s and live in the West Midlands. Jia has a younger brother, Jai, and sister, Asha. I have a job in IT and my wife used to work as a Trading Standards Officer before she became Jia’s full-time carer.  Jia was born in 2005 and was diagnosed with CDKL5 in 2009 – a month before her brother Jai was born. The diagnosis was a relief as Jia had been tested for pretty much everything else going! Having a diagnosis, for us, meant that we could move forward in our lives and look towards a future. Together we can help Jia reach her potential with friends who would also be going on this journey too. Enabling our whole family to support and be supported through the good times and the bad.

WhatsApp Image 2020-03-22 at 15.17.20

Heike Jord Knip, Trustee

My name is Heike Knip, and I own a Web Design and Marketing company in Surrey, where I live with my family. Before our recent move to the United Kingdom, in 2016, we have previously lived in the Netherlands and Malta.

In 2014 our youngest daughter Valentina was born, and in 2015 she was diagnosed with CDLK5 deficiency in UMCG in Groningen, the Netherlands. Even though Valentina is severely limited physically and not able to speak due to her condition, we have enjoyed seeing her develop her own personality and can see many traits of myself and my wife in her.

It’s important to highlight these achievements as I feel that us as parents as well as the medical profession can underestimate what our children know and can become. And we will continue to give her the support she needs to develop further in the coming years.

My aim, as a trustee of CDKL5 UK, is to helping the charity work towards finding a treatment or a cure, so we can help children like my daughter. Therefore, I am proud and honoured to be part of the team and am looking forward to working together with all families in the UK and aboard.

We’re delighted to have three new trustees join the team, Siobhan Thatcher and Nicholas John Searle. Full bios will follow shortly.